Tetraploidy in BRCA2 breast tumours.

• Published in: European Journal of Cancer
• Main Authors: Jonsdottir, Asta Bjork, Stefansson, Olafur Andri, Bjornsson, Johannes, Jonasson, Jon G, Ogmundsdottir, Helga M, Eyfjord, Jorunn E
• Other Authors: Cancer Research Laboratory, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Elsevier Science 2013
• Subjects: Aneuploidy; Breast Neoplasms; Female; Flow Cytometry; Genes; BRCA2; Genetic Markers; Germ-Line Mutation; Humans; Immunohistochemistry; Molecular Sequence Data; Phenotype; Tetraploidy; Iceland
• Online Access: http://hdl.handle.net/2336/299937; https://doi.org/10.1016/j.ejca.2011.11.008

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Tetraploidy and aneuploidy can be caused by cell division errors and are frequently observed in many human carcinomas. We have recently reported delayed cytokinesis in primary human fibroblasts from BRCA2 mutation carriers, implying a function for the BRCA2 tumour suppressor in completion of cell division. Here, we address ploidy aberrations in breast tumours derived from BRCA2 germline mutation carriers. Ploidy aberrations were evaluated from flow cytometry histograms on selected breast tumour samples (n=236), previously screened for local BRCA mutations. The ploidy between BRCA2-mutated (n=71) and matched sporadic (n=165) cancers was compared. Differences in ploidy distribution were examined with respect to molecular tumour subtypes, previously defined by immunohistochemistry on tissue microarray sections. Tetraploidy was significantly 3 times more common in BRCA2 breast cancers than sporadic. However, no differences were found in the overall ploidy distribution between BRCA2-mutation carriers and non-carriers. In BRCA2 cancers, tetraploidy was associated with luminal characteristics. The increased frequency of tetraploidy in BRCA2 associated cancers may be linked to cell division errors, particularly cytokinesis. Additionally, tetraploidy emerges predominantly in BRCA2 breast cancers displaying luminal rather than triple-negative phenotypes. University of Iceland Soroptimist International of Europe